A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature

There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four‐generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years had (mild) nephrogenic diabetes insipidus. In her father with CDI, a known pathogenic heterozygous AVP variant c.232_234del p.(Glu78del) was identified, confirming the diagnosis of CDI in him and the other affected family members. In the proband, molecular analysis disclosed a novel heterozygous AVPR2 gene variant, c.962A > T p.(Asn321Ile) and an extremely skewed X‐inactivation, confirming X‐linked nephrogenic diabetes insipidus (XL‐NDI). Whole exome sequencing showed no further causative mutation. This is the first report on the co‐existence of CDI and NDI in one family. Our review of symptomatic female AVPR2 heterozygotes includes 23 families with at least one affected female (including this study). There were 21 different causative mutations. Mutation types in females did not differ from those in males. Both severe XL‐NDI and mild forms were reported in females. All six females with severe XL‐NDI had complete loss‐of‐function (null) mutations. The remaining 17 female probands had milder XL‐NDI caused by 14 missense variants and three null variants of the AVPR2 gene. X‐inactivation was studied in nine of these females; all showed extreme or slight skewing. The review underlines that XL‐NDI in female AVPR2 heterozygotes is always accompanied by skewed X‐inactivation, emphasizing a need for X‐inactivation studies in these females.     

An Association Between a Microsatellite Polymorphism at the DRD5 Gene and the Liability to Substance Abuse: Pilot Study

We have conducted a population-based association study of substance abuse and a microsatellite at the dopamine D5 receptor locus (DRD5) in a sample of European–American males and females with substance dependence (SA) or without any psychiatric disorder. Overrepresentation of the most frequent allele (148 bp) was found in males in the SA group (OR = 2.2, P= .02); this finding was reproduced in females (OR = 5.4, p< .001). The difference in the frequencies of this allele between SA males and SA females was statistically significant. The genotype coded in accordance with the dose of this allele correlated with substance abuse liability in males and females (stronger in females) and with novelty seeking in females. There was no evidence of correlation between the genotypes of spouses that could be induced by assortative mating for the liability to substance abuse. The data suggest that the DRD5 locus is involved in the variation and sex dimorphism of substance abuse liability.CEDAR is a consortium between St. Francis Medical Center and the University of Pittsburgh.     

Attitudes toward smoking cessation among men and women

Recent reports indicate that women are less successful than men in their attempts to quit smoking. Sex differences in attitudes toward smoking cessation were examined cross-sectionally in a sample of 447 smokers randomly selected from employees of 10 diverse Minnesota worksites and interviewed in early 1984. No sex differences were found in the percentage of smokers who had tried to quit at least once in the past; indeed, over four of five respondents reported prior attempts to quit. Yet compared to women, men were more interested in quitting. Women were less likely than men to perceive the health benefits of quitting and expressed more concern about weight gain and job pressures related to quitting. No significant sex differences were found in prior use of formal cessation services, which had been used by about one-fourth of these respondents. Yet compared to men, women appeared to rely on informal sources of support, such as encouragement from co-workers. These findings underline the importance of intervention programs targeting women and suggest strategies that might enhance the effectiveness of such programs oriented toward women.     

A prospective study of fatal occupational accidents -- relationship to sleeping difficulties and occupational factors

Very little is known about the association between sleep and (fatal) occupational accidents. This study investigated this relationship using register data of self-rated sleep difficulties, together with occupational and demographic characteristics. The variables were related to subsequent occupational fatal accidents. A national sample of 47,860 individuals was selected at regular intervals over a period of 20 years, and interviewed over the phone on issues related to work and health. The responses were linked to the cause of death register (suicides excluded) and the data set was subjected to a (multivariate) Cox regression survival analysis. One hundred and sixty six fatal occupational accidents occurred, and the significant predictors were: male vs. female: relative risk (RR)=2.30 with a 95% confidence interval (CI) of 1.56-3.38; difficulties in sleeping (past 2 weeks): RR=1.89 with CI=1.22-2.94; and non-day work: RR=1.63 with CI=1.09-2.45. No significant effect was seen for age, socio-economic group, hectic work, overtime (>50 h per week), or physically strenuous work. It was concluded that self-reported disturbed sleep is a predictor of accidental death at work, in addition to non-day work and male gender.     

Children's perceptions of peers with somatic symptoms: the impact of gender, stress, and illness

OBJECTIVE: To investigate how illness characteristics influence children's responses to ill peers. METHODS: A sample of 363 4th and 5th graders responded to a vignette describing a peer with abdominal pain. In a 2 x 2 x 2 x 2 design, conditions varied by (a) evidence for organic disease, (b) presence of stress, (c) sex of vignette character, and (d) sex of respondent. Children rated symptom severity, liking for the peer, and whether the peer should be excused from normal responsibilities. RESULTS: Same sex preferences significantly influenced children's liking for a peer. Children viewed symptoms with an organic etiology as more severe than those without one. Under certain conditions, symptom severity judgments mediated the relation between the presence of organic disease and (a) liking and (b) granting relief from responsibility. The presence of stress had little effect on ratings of symptom severity, liking, or relief from responsibility. CONCLUSIONS: Gender and evidence of organic disease influence children's perceptions of and responses to symptomatic peers.     

噪声作业工人血糖水平与噪声性听力损失的关系

目的 探究血糖与性别之间的交互作用对噪声性听力损失(noise-included hearing loss, NIHL)的影响。 方法 采用病例对照研究,询问调查噪声作业工人一般资料、职业史、既往史等资料以及职业健康监护资料,进行单因素分析,然后采用logistic回归模型分析NIHL的影响因素,再进行乘法交互作用分析。 结果 调查的1 628例噪声作业工人NIHL 616人(37.84%),NIHL的危险因素有血糖偏高(OR=1.960,95%CI:1.345~2.855)、男性(OR=4.346,95%CI:2.866~6.590)、高环境噪声强度(OR=1.036,95%CI:1.016~1.056)、单核细胞计数偏高(OR=8.522,95%CI:3.054~23.776)、血小板偏低(OR=0.997,95%CI:0.994~0.999)。血糖偏高人员的NIHL风险是血糖正常的1.960倍(P＜0.01),男性NIHL的风险是女性的4.346倍(P＜0.01),环境噪声强度每增加一个单位,NIHL风险提高1.036倍。血糖偏高与男性对NIHL的加法交互作用有统计学意义,两者同时存在时OR值为8.962,交互作用指数值为2.123。 结论 有必要考虑将空腹血糖检查纳入噪声作业人员常规检查项目,加强男性噪声作业工人血糖水平的监测,筛查出血糖偏高人群并给予一定的控制、干预,必要时调离工作岗位。     

Disparities Among Leading Publishers of Arthroplasty Research

BackgroundDespite the importance of diversity in advancing scientific progress, diversity among leading authors in arthroplasty has not been examined. This study aimed to identify, characterize, and assess disparities among leading authors in arthroplasty literature from 2002 to 2019.MethodsArticles published between 2002 and 2019 from 12 academic journals that publish orthopedic and arthroplasty research were extracted from PubMed. Original articles containing keywords related to arthroplasty were analyzed. Author gender was assigned using the Genderize algorithm. Gender and characterization of the top 100 male and female authors utilized available information on academic profiles.ResultsFrom the 14,692 articles that met inclusion criteria, the genders of 23,626 unique authors were identified. Women were less likely than men to publish 5 years after beginning their publishing careers (adjusted odds ratio 0.51, 95% confidence interval 0.45-0.57, P < .001). Of the top 100 authors, 96 were men, while only 4 were women. Orthopedic surgeons made up 93 of 100 top authors, of which 92 were men and 1 was a woman. Among the top 10 publishing female and male authors, 10 of 10 men were orthopedic surgeons, only 2 of 10 women were physicians, and only one was an attending orthopedic surgeon.ConclusionWhile the majority of authors with high arthroplasty publication volume were orthopedic surgeons, there were significant gender disparities among the leading researchers. We should continue working to increase gender representation and supporting the research careers of women in arthroplasty.     

Current status and solutions for gender equity in anaesthesia research

Despite increasing numbers of women entering anaesthesia, they remain persistently under-represented within academic anaesthesia and research. Gender discordance is seen across multiple aspects of research, including authorship, editorship, peer review, grant receipt, speaking and leading. Women are also under-represented at higher faculty ranks and in department chair positions. These inequities are further magnified for women with intersectional identities, such as those who identify as Black, indigenous and women of colour. Several barriers to participation in research have been identified to date, including a disproportionate amount of family responsibilities, a disproportionate burden of clinical service, gender bias, sexual harassment and the gender pay gap. Several strategies to improve gender equity have been proposed. Increasing access to formal mentorship of women in academic medicine is frequently cited and has been used by healthcare institutions and medical societies. Senior faculty and leaders must also be conscious of including women in sponsorship and networking opportunities. Institutions should provide support for parents of all genders, including supportive parental leave policies and flexible work models. Women should also be materially supported to attend formal educational conferences targeted for women, aimed at improving networking, peer support and professional development. Finally, leaders must display a clear intolerance for sexual harassment and discrimination to drive culture change. Peers and leaders alike, of all genders, can act as upstanders and speak up on behalf of targets of discrimination, both in the moment or after the fact. Gender inequities have persisted for far too long and can no longer be ignored. Diversifying the anaesthesia research community is essential to the future of the field.     

Prevalence of HIV and sexually transmitted and blood-borne infections,and related preventive and risk behaviours,among gay,bisexual and other men who have sex with men in Montreal,Toronto and Vancouver: results from the Engage Study

ObjectivesThe last Canadian biobehavioural surveillance study of HIV and other sexually transmitted and blood-borne infections (STBBI) among gay, bisexual and other men who have sex with men (GBM) was conducted in 2010. We designed a study to measure STBBI prevalence among GBM in metropolitan Montreal, Toronto and Vancouver and to document related preventive and risk behaviours.MethodsThe Engage Cohort Study used respondent-driven sampling (RDS) to recruit GBM who reported sex with another man in the past 6 months. At baseline, we examined recruitment characteristics of the samples, and the RDS-II-adjusted distributions of socio-demographics, laboratory-confirmed HIV and other STBBI prevalence, and related behaviours, with a focus on univariate differences among cities.ResultsA total of 2449 GBM were recruited from February 2017 to August 2019. HIV prevalence was lower in Montreal (14.2%) than in Toronto (22.2%) or Vancouver (20.4%). History of syphilis infection was similar across cities (14–16%). Vancouver had more HIV-negative/unknown participants who reported never being HIV tested (18.6%) than Toronto (12.9%) or Montreal (11.5%). Both Montreal (74.9%) and Vancouver (78.8%) had higher proportions of men who tested for another STBBI in the past 6 months than Toronto (67.4%). Vancouver had a higher proportion of men who used pre-exposure prophylaxis (PrEP) in the past 6 months (18.9%) than Toronto (11.1%) or Montreal (9.6%).ConclusionThe three largest cities of Canada differed in HIV prevalence, STBBI testing and PrEP use among GBM. Our findings also suggest the need for scale-up of both PrEP and STI testing among GBM in Canada.